Stargardt's disease provokes a degenerative process in the macula. There are many diseases, the clinic of which is similar to this pathology. They are caused by mutations in various genes. Therefore, the disease is classified as a hereditary pathology.
The main clinical manifestation of the disease is a degenerative process in the macula, as well as central pigment retinitis, causing visual loss with the development of central scotoma.
Features of the disease
Stargardt's disease is one of the rare but very severe pathologies. It manifests itself at a young age - from 6 to 20 years old with a frequency of 1: 20,000 people. In other age categories, pathology, as a rule, does not occur. The consequences of the disease are catastrophic. Complete loss of vision is not ruled out.
The disease has a genetic basis. The dystrophic process affects the macular area of the retina and originates in the area of the pigment epithelium, which leads to loss of vision. The process is bilateral.
Forms of pathology
There is a clear distinction between four types of pathology depending on the area of localization of the inflammation zone:
Degenerative process can be marked:
- in the middle peripheral zone;
- in the macular area;
- in the paracentral zone.
There is also a mixed form of the disease, which involves the localization of inflammation in the central part of the eyes and on the periphery.
Mechanisms of disease progression
The causes of the disease are described by the doctor K. Stargardt in the first half of the twentieth century. The disease is named after him. Pathology is related to the macular region and, according to the scientist, is inherited within the same family. Usually, a polymorphic ophthalmoscopic picture is indicated, called "atrophy of the choroid", "bull's eye", "broken bronze", etc.
The main locus of the gene that causes retinitis pigmentosa, most pronounced in photoreceptors, has been identified through positional cloning. In science, he received the name ABCR.
Eye disease is inherited in an autosomal dominant manner. The pathology is characterized by the localization of mutated genes in chromosomes 13q and 6ql4.
The genetic basis is not based on gender. According to recent studies by geneticists, with the dominant type of transmission of the disease, it proceeds somewhat easier and does not always lead to blindness. Most receptor cells continue to function. In such patients, the pathology proceeds with a minimumsymptoms. The sick retain their working capacity and the ability to drive vehicles.
How does Stargardt's disease develop? The causes of macular cell degeneration lie in the lack of energy. The gene defect provokes the production of an inferior protein that transmits ATP molecules through the cell membrane of the macula of the central part of the retina. It focuses on graphics and color.
Symptoms of pathology
What are the characteristics of people with Stargardt's disease? With the development of the disease, there is no pathology in other internal organs. The process affects only the eyes. The disease begins with loss of visual acuity. Subsequently, the symptoms increase, and gross violations of color perception appear in the entire spectral range perceived by vision.
Degenerative changes in the fundus are manifested in the following indicators:
- pigmented dots of a round shape are noted in both eyes;
- there are local areas devoid of pigmentation;
- an atrophic process is observed in the retinal pigment epithelium.
Such processes can occur in conjunction with the appearance of whitish-yellow spots. As the disease progresses, increased accumulation of a lipofuscin-like substance is detected in the retinal pigment epithelium.
In all patients affected by this pathology, absolute or partial central scotomas are detected, which have a different size, due to the prevalence of the process.
In the yellow-spotted form, the field of view of a sick person may remain within the normal range, but central vision is markedly reduced.
Most of the sick people who were examined had a violation of color perception by the type of deuteranopia, red-green dyschromasia. With a yellow-spotted dystrophic process, color vision may not be affected at all.
With Stargardt's dystrophy, the frequency of spatial contrast sensitivity changes (in the range of 6 - 10 º with a significant decrease in the region of medium spatial frequencies and a complete absence in the region of high frequencies). The syndrome has been called "cone dystrophy pattern".
Symptoms include wavy vision, blind spots, blurring, color shifting, and difficulty adapting to low light conditions.
Disease diagnosis
Research at the genetic level reveals evidence that Stargardt's eye disease is determined by allelic disorders of the ABCR locus.
Diagnosis of the disease begins with the study of the condition of the fundus. Fluorescent angiography of the retinal vessels is performed, as well as an electrophysiological examination. In this case, it is necessary to determine the degree of damage. This makes it possible to designate a number of indicators of the disease, including hyperfluorescent lesions and fluorescence of the optic nerve head.
Since the disease has a hereditary nature, thenthe most accurate way to determine it will be diagnostics at the DNA level, which can detect hereditary monogenic diseases.
Differentiated Diagnosis
Stargardt's disease should be distinguished from cone-rod, cone, and rod-cone dystrophic process, dominant progressive foveal dystrophy, juvenile retinoschisis, vitelliform macular dystrophy.
Also, differentiated diagnosis is indicated in case of toxicosis during pregnancy, acquired due to drug dystrophy (in particular, with chloroquine retinopathy).
Can Stargardt's disease be cured?
There is no etiological therapy. How is Stargardt's disease treated? Ancillary treatment involves the use of parabulbar injections of taurine and antioxidants, the introduction of vasodilators (pentoxifylline, nicotinic acid), as well as steroids.
The treatment is carried out with vitamins that help strengthen the walls of blood vessels and improve blood circulation. Vitamins of groups B, A, C, E are usually used.
Physiotherapeutic procedures are shown. Among them, electrophoresis with the use of drugs should be highlighted, as well as stimulation of the retina by means of a laser.
Retinal revascularization is applied by transplanting muscle fibers from the macula.
Earlier, ophthalmologists around the world believed that the disease was nottreatable. The above therapy helped only slightly delay the progression of the pathology, but by no means prevent it.
As a rule, treatment did not save people from complete loss of vision. It was necessary to develop a different technique that would help restore damaged eye structures.
Innovative Therapy Method
Is there currently an effective method for eliminating such a pathology as Stargardt's disease? How to treat a serious illness? The method was proposed in 2009 by Dr. Alexander Dmitrievich Romashchenko, who is the head of the ON Clinic Ophthalmology Center (St. Petersburg, Marata St., 69, building B). He improved the treatment option for the disease, based on tissue cellular treatment.
The basis of therapy is the use of stem cells from the adipose tissue of a sick person. The therapeutic method was developed earlier by the scientist V. P. Filatov. Thanks to innovative technology, patients are given the opportunity to restore their lost vision and ensure a full life.
Dr. A. D. Romashchenko registered a set of technologies in the field of biomedicine and patented the following methods of stem cell treatment:
- combined method for eliminating the wet form of the disease;
- complex method of pathogenetic therapy of central and tapetoretinal dystrophy.
Which clinic provides treatment?
Treatment of the most difficult diseaseengaged in the ophthalmological center "On Clinic". The center is located in a city like St. Petersburg. It is possible to treat Stargardt's disease only in this center, as it is the only one in Russia where such technology is used.
Is stem cell therapy safe?
Specialists can confidently confirm that therapy using the technology developed by A. D. Romashchenko is absolutely safe. The patient's cells are used for therapy, which eliminates the possibility of their rejection or the development of other negative consequences.
Conclusion
Stargradt's disease makes its debut at an early age and quickly leads to complete loss of vision. In very rare cases, when inherited according to the dominant type, vision falls at a slow pace. Patients are advised to visit an ophthalmologist, take vitamins and wear sunglasses. Stem cell therapy is considered the most effective way to eliminate pathology.
